93390002: Congenital ocular coloboma (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital ocular coloboma (disorder)	Is a	Coloboma of eye	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Associated morphology	Defect	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eyeball segment structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital ocular coloboma (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	3
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	3
Congenital ocular coloboma (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Is a	Lesion of eye (disorder)	true	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital coloboma of optic disc	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of lens	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of choroid	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of iris	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits.	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital coloboma of iris	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital chorioretinal coloboma of right eye (disorder)	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital chorioretinal coloboma of left eye (disorder)	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Fundus coloboma	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders.	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Renal coloboma syndrome (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of retina	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital colobomatous cyst of orbit (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
154575016	Congenital ocular coloboma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
837113018	Congenital ocular coloboma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314159019	Coloboma of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314160012	COI - Coloboma of iris, choroid and retina	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314161011	Coloboma of iris, choroid and retina	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314162016	Ocular coloboma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4710971000241115	colobome congénital de l'oeil	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
510221000274119	Kolobom des Auges	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
625681000274113	Kongenitales okuläres Kolobom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module